Primary lymphoedema
Gene: SHOC2
SHOC2 (SHOC2, leucine rich repeat scaffold protein)
EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 15 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).Created: 27 Jun 2019, 3:51 p.m. | Last Modified: 27 Jun 2019, 3:51 p.m.
Panel Version: 1.74
Sahar Mansour (St George's Hospital, London)
Green gene from RASopathies (Version 1.55)(https://panelapp.genomicsengland.co.uk/panels/48/). Single gain of function variant (c.4A>G p.(Ser2Gly)) reported as a de novo in at least 15 cases. Functional studies show disrupted cellular localization andCreated: 27 Jun 2019, 3:36 p.m. | Last Modified: 27 Jun 2019, 3:36 p.m.
Panel Version: 1.45
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan-like syndrome with loose anagen hair 607721
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Noonan-like syndrome with loose anagen hair 607721
- OMIM
- 602775
- Clinvar variants
- Variants in SHOC2
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
27 Jun 2019, Gel status: 3
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SHOC2 were set to
27 Jun 2019, Gel status: 3
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: shoc2 has been classified as Green List (High Evidence).
27 Jun 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: SHOC2 was added gene: SHOC2 was added to Primary lymphoedema. Sources: Expert Review Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair 607721